S65N (p.Ser65Asn) variant of CD19 (B-lymphocyte antigen CD19)
S65N (p.Ser65Asn) in CD19 (B-lymphocyte antigen CD19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
S65N (p.Ser65Asn) variant details
- p.Ser65Asn
- rs145255205
- ClinGen CA7988303
- ClinVar RCV002660594
- ESP rs145255205
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0678
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.99
- CADD 1.26
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)